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通过创建数据共享平台推进单基因糖尿病研究与临床护理:精准糖尿病联盟(PREDICT)

Advancing Monogenic Diabetes Research and Clinical Care by Creating a Data Commons: The Precision Diabetes Consortium (PREDICT).

作者信息

McCullough Michael E, Letourneau-Freiberg Lisa R, Naylor Rochelle N, Greeley Siri Atma W, Broome David T, Tosur Mustafa, Kreienkamp Raymond J, Cobry Erin, Rasouli Neda, Pollin Toni I, Udler Miriam S, Billings Liana K, Desouza Cyrus, Evans-Molina Carmella, Birz Suzi, Furner Brian, Watkins Michael, Ott Kaitlyn, Volchenboum Samuel L, Philipson Louis H

机构信息

Department of Medicine, The University of Chicago, Chicago, IL, USA.

Department of Pediatrics, The University of Chicago, Chicago, IL, USA.

出版信息

J Diabetes Sci Technol. 2025 Jan 9:19322968241310896. doi: 10.1177/19322968241310896.

Abstract

Monogenic diabetes mellitus (MDM) is a group of relatively rare disorders caused by pathogenic variants in key genes that result in hyperglycemia. Lack of identified cases, along with absent data standards, and limited collaboration across institutions have hindered research progress. To address this, the UChicago Monogenic Diabetes Registry (UCMDMR) and UChicago Data for the Common Good (D4CG) created a national consortium of MDM research institutions called the PREcision DIabetes ConsorTium (PREDICT). Following the D4CG model, PREDICT has successfully established a multicenter MDM data commons. PREDICT has created a consensus data dictionary that will be utilized to address critical gaps in understanding of these rare types of diabetes. This approach may be useful for other rare conditions that would benefit from access to harmonized pooled data.

摘要

单基因糖尿病(MDM)是一组相对罕见的疾病,由关键基因中的致病变异导致高血糖。病例识别不足、缺乏数据标准以及机构间合作有限阻碍了研究进展。为解决这一问题,芝加哥大学单基因糖尿病登记处(UCMDMR)和芝加哥大学公共利益数据中心(D4CG)创建了一个名为精准糖尿病联盟(PREDICT)的MDM研究机构全国性联盟。遵循D4CG模式,PREDICT成功建立了一个多中心MDM数据共享库。PREDICT创建了一个共识数据字典,将用于填补对这些罕见类型糖尿病理解上的关键空白。这种方法可能对其他罕见疾病有用,这些疾病将受益于获取统一汇总的数据。

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